207 related articles for article (PubMed ID: 22795106)
1. Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene.
Chen CP; Chern SR; Chang TY; Su YN; Chen YY; Su JW; Wang W
Taiwan J Obstet Gynecol; 2012 Jun; 51(2):266-70. PubMed ID: 22795106
[TBL] [Abstract][Full Text] [Related]
2. Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene.
Chen CP; Chang TY; Chen CY; Wang TY; Tsai FJ; Wu PC; Chern SR; Wang W
Taiwan J Obstet Gynecol; 2012 Mar; 51(1):100-5. PubMed ID: 22482978
[TBL] [Abstract][Full Text] [Related]
3. Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.
Chen CP; Ko TM; Chang TY; Chern SR; Chen SW; Lai ST; Chuang TY; Wang W
Taiwan J Obstet Gynecol; 2018 Feb; 57(1):123-127. PubMed ID: 29458881
[TBL] [Abstract][Full Text] [Related]
4. Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome).
Kumru P; Aka N; Köse G; Vural ZT; Peker O; Kayserili H
Fetal Diagn Ther; 2005; 20(5):410-4. PubMed ID: 16113563
[TBL] [Abstract][Full Text] [Related]
5. Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III.
Mei L; Huang Y; Pan Q; Su W; Quan Y; Liang D; Wu L
Clin Chim Acta; 2015 Jul; 447():47-51. PubMed ID: 25982780
[TBL] [Abstract][Full Text] [Related]
6. NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
El Hokayem J; Huber C; Couvé A; Aziza J; Baujat G; Bouvier R; Cavalcanti DP; Collins FA; Cordier MP; Delezoide AL; Gonzales M; Johnson D; Le Merrer M; Levy-Mozziconacci A; Loget P; Martin-Coignard D; Martinovic J; Mortier GR; Perez MJ; Roume J; Scarano G; Munnich A; Cormier-Daire V
J Med Genet; 2012 Apr; 49(4):227-33. PubMed ID: 22499340
[TBL] [Abstract][Full Text] [Related]
7. First-trimester prenatal diagnosis of Ellis-van Creveld syndrome.
Chen CP; Chen CY; Chern SR; Su JW; Wang W
Taiwan J Obstet Gynecol; 2012 Dec; 51(4):643-8. PubMed ID: 23276573
[TBL] [Abstract][Full Text] [Related]
8. Short rib-polydactyly syndrome type III: comparison of ultrasound, radiology, and pathology findings.
Golombeck K; Jacobs VR; von Kaisenberg C; Oppermann HC; Reinecke-Lüthge A; Weisner D; Jonat W
Fetal Diagn Ther; 2001; 16(3):133-8. PubMed ID: 11316927
[TBL] [Abstract][Full Text] [Related]
9. Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report.
Meizner I; Barnhard Y
Prenat Diagn; 1995 Jul; 15(7):665-8. PubMed ID: 8532628
[TBL] [Abstract][Full Text] [Related]
10. A short rib polydactyly syndrome overlapping both lethal and nonlethal types.
Başgül Yiğiter A; Güdücü N; Kavak ZN; Işçi H; Elçioğlu N
Genet Couns; 2012; 23(2):231-7. PubMed ID: 22876582
[TBL] [Abstract][Full Text] [Related]
11. Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.
Deng L; Cheung SW; Schmitt ES; Xiong S; Yuan M; Chen Z; Chen L; Sun L
Birth Defects Res; 2018 Mar; 110(4):364-371. PubMed ID: 29359448
[TBL] [Abstract][Full Text] [Related]
12. Sonographic detection of situs inversus, ventricular septal defect, and short-rib polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus not known to be at risk.
Chen CP; Chang TY; Tzen CY; Lin CJ; Wang W
Ultrasound Obstet Gynecol; 2002 Jun; 19(6):629-31. PubMed ID: 12047549
[No Abstract] [Full Text] [Related]
13. Short rib-polydactyly syndrome.
Naki MM; Gür D; Zemheri E; Tekcan C; Kanadikirik F; Has R
Arch Gynecol Obstet; 2005 Jul; 272(2):173-5. PubMed ID: 15605271
[TBL] [Abstract][Full Text] [Related]
14. Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.
Bernstein R; Isdale J; Pinto M; Du Toit Zaaijman J; Jenkins T
J Med Genet; 1985 Feb; 22(1):46-53. PubMed ID: 3981580
[TBL] [Abstract][Full Text] [Related]
15. Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography.
Yamada T; Nishimura G; Nishida K; Sawai H; Omatsu T; Kimura T; Nishihara H; Shono R; Shimada S; Morikawa M; Mizushima M; Yamada T; Cho K; Tanaka S; Shirato H; Minakami H
J Obstet Gynaecol Res; 2011 Feb; 37(2):151-5. PubMed ID: 21159031
[TBL] [Abstract][Full Text] [Related]
16. Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium.
Horigome H; Hamada H; Sohda S; Oyake Y; Kurosaki Y
Pediatr Radiol; 1997 Dec; 27(12):942-4. PubMed ID: 9388288
[TBL] [Abstract][Full Text] [Related]
17. Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case.
Myong NH; Park JW; Chi JG
J Korean Med Sci; 1998 Apr; 13(2):201-6. PubMed ID: 9610623
[TBL] [Abstract][Full Text] [Related]
18. Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum.
Cavalcanti DP; Huber C; Sang KH; Baujat G; Collins F; Delezoide AL; Dagoneau N; Le Merrer M; Martinovic J; Mello MF; Vekemans M; Munnich A; Cormier-Daire V
J Med Genet; 2011 Feb; 48(2):88-92. PubMed ID: 19648123
[TBL] [Abstract][Full Text] [Related]
19. Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome.
Young LW; Wilhelm LL; Zuppan CW; Clark R
Pediatr Radiol; 2001 Jan; 31(1):31-5. PubMed ID: 11200995
[TBL] [Abstract][Full Text] [Related]
20. Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II.
Chen CP; Chang TY; Lin MH; Chern SR; Su JW; Wang W
Taiwan J Obstet Gynecol; 2013 Sep; 52(3):420-5. PubMed ID: 24075385
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
